Medicine
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Case Reports
A novel PMP22 insertion mutation causing Charcot-Marie-Tooth disease type 3: A case report.
Charcot-Marie-Tooth disease (CMT) is a group of hereditary neuropathies with clinical features of muscle atrophy, sensory loss, and foot deformities. CMT is related to a number of genes, such as peripheral myelin protein 22 gene (PMP22). Missense mutations, small deletion mutations, and duplications of PMP22 are common in CMT patients, but few insertion mutation cases of PMP22 have been reported. ⋯ Our findings link a novel PMP22 mutation with a clinical diagnosis of CMT3. The link between gene variation and CMT phenotype may help to reveal the structure and function of PMP22 protein and the pathogenesis of CMT. This study adds further support to the heterogeneity of PMP22 related CMT and provides solid functional evidence for the pathogenicity of the p.(L19delinsVLL) PMP22 variant. Moreover, with the development of high-throughput sequencing technology, the combination of next-generation sequencing (NGS) and conventional Sanger sequencing is becoming one of the comprehensive, inexpensive, and convenient tools for genetic diagnosis of CMT.
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Case Reports
A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.
X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but missense variants are rare. ⋯ The short stature is a noteworthy problem for X-linked SEDT cases. We report a novel missense variant site in TRAPPC2 treated with growth hormone in the literature. We do not recommend the use of recombinant human growth hormone on patients with X-linked SEDT for the concern of glucose homeostasis.
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The HLH-94 protocol is a standard induction treatment for hemophagocytic lymphohistiocytosis. However, about 30% of patients may not respond. Ruxolitinib has been clinically proven to be an effective treatment for hemophagocytic lymphohistiocytosis (HLH). ⋯ This case report highlights the effect of using ruxolitinib in conjunction with the HLH-94 protocol. However, safety evaluation of this regimen was not performed because critically ill patient died too fast.
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The Cognitive Abilities Screening Instrument (CASI) assesses global cognitive function in people with dementia with 9 domains (i.e., long-term memory, short-term memory, concentration, orientation, attention, abstraction and judgment, language abilities, visual construction, and category fluency). However, the ecological, convergent, and discriminant validities of the CASI have not yet been examined. ⋯ The CASI has adequate ecological validity, good convergent validity, and acceptable discriminative validity in people with dementia. The 5 domains with nonsignificant differences or ceiling effects should only be used with caution to distinguish people with dementia.
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Observational Study
Clinical features and viral RNA shedding of imported and local cases with COVID-19 in Wenzhou, China.
Wenzhou had the highest number of confirmed novel coronavirus 2019 (COVID-19) cases outside the Hubei province. The aim of this study was to identify the difference in clinical features and viral RNA shedding between the imported and local COVID-19 cases in Wenzhou. All patients with confirmed COVID-19 admitted to Wenzhou Sixth People's Hospital, Wenzhou Central Hospital Medical Group, from January 17 to February 11, 2020, were enrolled in this study. ⋯ The median duration of SARS-CoV-2 RNA shedding from symptom onset was 26 days (IQR 17-32.3 days) and there were no significant differences in duration of viral RNA shedding between the two groups. The study findings suggest that imported cases from Wuhan were more likely to be severe compared to the local cases in Wenzhou. However, there was no difference between imported and local cases on the viral shedding among the COVID patients.